Speech language pathology findings in a Treacher Collins syndrome patient.

BACKGROUND Treacher Collins syndrome (TCS) is a rare disorder with different levels of severity due to congenital head and face abnormalities which affect language, orofacial musculature, voice and breadth, suction, chewing and swallowing functions. AIMS This paper objectifies to report a Treacher Collins syndrome patient, describing phonoaudiological changes that can be found in individuals suffering from this syndrome. METHODS & PROCEDURES The study was carried out with a male child at a teaching Speech Language Pathology clinic in Southern Brazil. The patient underwent audiological assessment, as well as orofacial motricity, swallowing, voice and speech assessments. OUTCOMES & RESULTS By means of the assessments, it was possible to perceive that the patient presents moderate hearing loss, inadequacy of phonoarticulatory organs, base of the tongue going backwards and epiglottis collapse over the larynx. In spite of evidencing significant difficulty in producing speech sounds, due to musculoskeletal changes, he effectively interacts in communicative situations, besides understanding sentences and narrated stories. CONCLUSIONS & IMPLICATIONS The screened case report evidences that an interdisciplinary follow-up is indispensable for this patient suffering from Treacher Collins syndrome, which implies not only speech language therapeutic follow-up, but also in ear, nose and throat and orthodontics areas.